Results 51 to 60 of about 3,750 (209)

Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation [PDF]

, 2017
Background: Public and patient involvement in the design of people-centred care and research is vital for communities whose needs are underserved, as are people with rare diseases.
de Freitas, C, dos Reis, V, Jaeken, J, Morava, E, Silva, S, Videira, PA   +5 more
core   +4 more sources

Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector

Stem Cell Research, 2023
Congenital Disorders of Glycosylation (CDG) are rare inherited metabolic diseases caused by genetic defects in the glycosylation of proteins and lipids. In this study, we describe the generation and characterization of one human induced pluripotent stem ...
Rodolfo Tonin, Federica Feo, Silvia Falliano, Lorenzo Ferri, Laura Giunti, Martino Calamai, Elena Procopio, Francesco Mari, Valerio Conti, Ilaria Fanelli, Franco Bambi, Renzo Guerrini, Amelia Morrone   +12 more
doaj   +1 more source

Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia) [PDF]

Archives of Disease in Childhood, 2002
To delineate the pattern of growth in prepubertal children with congenital disorder of glycosylation type Ia (CDG-Ia) in order to identify critical period(s) and possible cause(s) of growth failure.Longitudinal measurements of weight, length/height, and head circumference from birth to 10 years of age in 25 CDG-Ia patients with the R141H/F119L PMM2 ...
S, Kjaergaard, J, Müller, F, Skovby
openaire   +2 more sources

Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives

Journal of Rare Diseases, 2022
Abstract Background and aim Congenital disorders of glycosylation (CDG) are a large heterogeneous group of about 170 rare inherited metabolic disorders due to defective protein and lipid glycosylation.
Ana Piedade, Rita Francisco, Jaak Jaeken, Peymaneh Sarkhail, Sandra Brasil, Carlos R. Ferreira, Tatiana Rijoff, Carlota Pascoal, Alexandre Gil, Ana Beatriz Lourenço, Marta Abreu, Mafalda Gomes, Paula A. Videira, Vanessa dos Reis Ferreira   +13 more
openaire   +1 more source

GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPB

Molecular Biomedicine, 2021
The congenital disorders of glycosylation (CDG) are a family of metabolic diseases in which glycosylation of proteins or lipids is deficient. GDP-mannose pyrophosphorylase B (GMPPB) mutations lead to CDG, characterized by neurological and muscular ...
Zhe Liu, Yan Wang, Fan Yang, Qin Yang, Xianming Mo, Ezra Burstein, Da Jia, Xiao-tang Cai, Yingfeng Tu   +8 more
doaj   +1 more source

GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency. [PDF]

J Inherit Metab Dis
ABSTRACT GDP‐mannose pyrophosphorylase B (GMPPB) deficiency is a congenital disorder of glycosylation due to pathogenic variants of the GMPPB gene. GMPPB catalyzes GDP‐mannose synthesis, an early step in multiple glycosylation pathways, including N‐glycosylation, O‐mannosylation, C‐mannosylation, and glycosylphosphatidylinositol‐anchor formation.
Damiano C, Tarallo A, Gragnaniello V, Strollo S, Fecarotta S, Tuzzi MR, Polishchuk E, Montefusco S, Valanzano A, Assunto A, Minopoli N, Casa RD, Polishchuk R, Groen SLMI', Medina DL, Bertini E, Carrozzo R, Emmerich J, Schoser B, Pijnappel WWMP, Parenti G.   +20 more
europepmc   +2 more sources

Differential effects of lobe A and lobe B of the conserved oligomeric golgi complex on the stability of β1,4-galactosyltransferase 1 and α2,6-sialyltransferase 1 [PDF]

, 2010
Erworben im Rahmen der Schweizer Nationallizenzen (http://www.nationallizenzen.ch)Initially described by Jaeken et al. in 1980, congenital disorders of glycosylation (CDG) is a rapidly expanding group of human multisystemic disorders.
Duvet, Sandrine, Foulquier, Francois, Legrand, Dominique, Matthijs, Gert, Mir, Anne-Marie, Peanne, Romain, Rohrer, Jack   +6 more
core   +2 more sources

Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation

Scientific Reports, 2023
Congenital disorders of glycosylation (CDG) are rare genetic disorders with a spectrum of clinical manifestations caused by abnormal N-glycosylation of secreted and cell surface proteins.
Sjors M. Kas, Piyushkumar A. Mundra, Duncan L. Smith, Richard Marais   +3 more
doaj   +1 more source

Analysis of congenital disorder of glycosylation-Id in a yeast model system shows diverse site-specific under-glycosylation of glycoproteins [PDF]

, 2012
Asparagine-linked glycosylation is a common post translational modification of proteins in eukaryotes. Mutations in the human ALG3 gene cause changed levels and altered glycan structures on mature glycoproteins and are the cause of a severe congenital ...
Aebi M., Apweiler R., Benjamin L. Schulz, Bova G. S., Breidenbach M. A., Burda P., Chen W., Garshasbi M., Haeuptle M. A., Helenius A., Henquet M., Henquet M., Honma K., Huffaker T. C., Hülsmeier A. J., Izquiedro L., Jamaluddin M. F. B., Janik M. E., Kasturi L., Kelleher D. J., Krokhin O. V., Lizak C., Mohorko E., Molinari F., Muhammad Fairuz Jamaluddin, Nasab F., Palmisano G., Pils D., Robinson N. E., Runge K. W., Sato S., Schulz B. L., Schulz B. L., Schulz B. L., Sun L., Ulla-Maja Bailey, Whitley P., Yin Q. Y., Zhang H.   +38 more
core   +1 more source

RFT1‐CDG: Deafness as a novel feature of congenital disorders of glycosylation [PDF]

Journal of Inherited Metabolic Disease, 2009
SummaryCongenital disorders of glycosylation (CDG) are genetic diseases due to defects in the synthesis of glycans and in the attachment of glycans to lipids and proteins. Actually, some 42 CDG are known including defects in protein N‐glycosylation, in protein O‐glycosylation, in lipid glycosylation, and in multiple and other glycosylation pathways ...
Jaeken, J, Vleugels, W, Régal, L, Corchia, C, Goemans, N, Haeuptle, M A, Foulquier, F, Hennet, T, Matthijs, G, Dionisi-Vici, C   +9 more
openaire   +2 more sources